This Panel is marked as Deleted
Immunological disorders_SuperPanel_PanelAppAustralia
Gene: SAMHD1
SAMHD1 (SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1)
EnsemblGeneIds (GRCh38): ENSG00000101347
EnsemblGeneIds (GRCh37): ENSG00000101347
OMIM: 606754, Gene2Phenotype
SAMHD1 is in 22 panels
EnsemblGeneIds (GRCh38): ENSG00000101347
EnsemblGeneIds (GRCh37): ENSG00000101347
OMIM: 606754, Gene2Phenotype
SAMHD1 is in 22 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Expert Review Green
- Phenotypes
-
- Aicardi-Goutieres syndrome 5, MIM#612952
- OMIM
- 606754
- Clinvar variants
- Variants in SAMHD1
- Penetrance
- None
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Likely inborn error of metabolism
- Rare genetic inflammatory skin disorders
- Intellectual disability
- Adult onset neurodegenerative disorder
- Mitochondrial DNA maintenance disorder
- Intracerebral calcification disorders
- COVID-19 research
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Childhood onset dystonia, chorea or related movement disorder
- Cerebral vascular malformations
- Adult onset leukodystrophy
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Mitochondrial disorders
- Early onset dystonia
- Early onset or syndromic epilepsy
- Juvenile dermatomyositis
- Adult onset dystonia, chorea or related movement disorder
- Fetal anomalies
- DDG2P
History Filter Activity
7 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: SAMHD1 was added gene: SAMHD1 was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Expert Review Green,Expert list Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SAMHD1 were set to Aicardi-Goutieres syndrome 5, MIM#612952